| Primary Identifier | MGI:1914703 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 67453 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including autophagy of mitochondrion; locomotion involved in locomotory behavior; and nervous system development. Located in mitochondrial outer membrane. Is expressed in craniocervical region bone; ear; jaw; nervous system; and respiratory system. Used to study Charcot-Marie-Tooth disease type 6. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 1E. Orthologous to human SLC25A46 (solute carrier family 25 member 46). PHENOTYPE: Homozygous null mice show ataxia, cerebellum, thymus and spleen hypoplasia, reduced Purkinje cell dendritic arborization and synaptic connectivity, altered cerebellar and retinal cytoarchitecture, optic nerve atrophy, astrogliosis and microgliosis, neuromuscular junction defects and premature death. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
